Emerging and converging molecular mechanisms in dystonia
P Gonzalez-Latapi, N Marotta, NE Mencacci - Journal of Neural …, 2021 - Springer
Dystonia is a clinically, genetically, and biologically heterogeneous hyperkinetic movement
disorder caused by the dysfunctional activity of neural circuits involved in motor control. Our …
disorder caused by the dysfunctional activity of neural circuits involved in motor control. Our …
Primary dystonia: molecules and mechanisms
Primary dystonia is characterized by abnormal, involuntary twisting and turning movements
that reflect impaired motor system function. The dystonic brain seems normal, in that it …
that reflect impaired motor system function. The dystonic brain seems normal, in that it …
Emerging common molecular pathways for primary dystonia
The dystonias are a group of hyperkinetic movement disorders whose principal cause is
neuron dysfunction at 1 or more interconnected nodes of the motor system. The study of …
neuron dysfunction at 1 or more interconnected nodes of the motor system. The study of …
Molecular pathways in dystonia
DC Bragg, IA Armata, FC Nery, XO Breakefield… - Neurobiology of …, 2011 - Elsevier
The hereditary dystonias comprise a set of diseases defined by a common constellation of
motor deficits. These disorders are most likely associated with different molecular etiologies …
motor deficits. These disorders are most likely associated with different molecular etiologies …
The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes
The discovery of biological pathways shared between different monogenic dystonias is an
important conceptual advance in the understanding of the underlying mechanisms, with a …
important conceptual advance in the understanding of the underlying mechanisms, with a …
Recent advances in the genetics of dystonia
J Xiao, SR Vemula, MS LeDoux - Current neurology and neuroscience …, 2014 - Springer
Dystonia, a common and genetically heterogeneous neurological disorder, was recently
defined as “a movement disorder characterized by sustained or intermittent muscle …
defined as “a movement disorder characterized by sustained or intermittent muscle …
Inherited dystonias: clinical features and molecular pathways
Recent decades have witnessed dramatic increases in understanding of the genetics of
dystonia–a movement disorder characterized by involuntary twisting and abnormal posture …
dystonia–a movement disorder characterized by involuntary twisting and abnormal posture …
[HTML][HTML] Inherited isolated dystonia: clinical genetics and gene function
W Dauer - Neurotherapeutics, 2014 - Elsevier
Isolated inherited dystonia—formerly referred to as primary dystonia—is characterized by
abnormal motor functioning of a grossly normal appearing brain. The disease manifests as …
abnormal motor functioning of a grossly normal appearing brain. The disease manifests as …
Genetics of primary torsion dystonia
N Brüggemann, C Klein - Current neurology and neuroscience reports, 2010 - Springer
Advances in the genetics of dystonia have further elucidated the pathophysiology of this
clinically and etiologically heterogeneous group of movement disorders. Currently, 20 …
clinically and etiologically heterogeneous group of movement disorders. Currently, 20 …